Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Tymp, thymidine phosphorylase gene"'
Autor:
A. Paisiou, M. Rogalidou, R. Pons, E. Ioannidou, K. Dimakou, A. Papadopoulou, F.M. Vaz, G. Vessalas, S.M.I. Goorden, J. Roelofsen, A. Zoetekouw, M.M. Nieman, E. Dimitriou, M. Moraitou, I. Peristeri, H. Michelakakis, A.B.P. van Kuilenburg
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022)
Molecular Genetics and Metabolism Reports, Vol 30, Iss, Pp 100829-(2022)
We describe the case of a Greek female patient with the Classic form of the ultra- rare and fatal autosomal recessive disorder Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and the impact of allogeneic hematopoietic stem cell transpla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33a1b0112f6a9e9aed11633d7f3ed0be
https://pubmed.ncbi.nlm.nih.gov/34926160
https://pubmed.ncbi.nlm.nih.gov/34926160
Autor:
Anna Karlsson, Ramon Martí, Xiaoshan Zhou, Ferran Vila-Julià, David Molina-Granada, Javier Torres-Torronteras, Yolanda Cámara, Daniel Jiménez-Heis, Cora Blázquez-Bermejo
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
EBioMedicine
Scientia
Universitat Autònoma de Barcelona
EBioMedicine
Scientia
Deoxycytidine; Deoxynucleoside therapy; Encephalomyopathy Desoxicitidina; Terapia basada en desoxinucleósido; Encefalomiopatía Desoxicitidina; Teràpia basada en desoxinucleòsid; Encefalomiopatia BACKGROUND: Thymidine kinase 2 (TK2) catalyses the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d9c527846a421620e33a8e62ea56f2
https://ddd.uab.cat/record/226556
https://ddd.uab.cat/record/226556
Autor:
Cura, Yasmin1 (AUTHOR) e.yacura@go.ugr.es, Sánchez-Martín, Almudena1 (AUTHOR), Márquez-Pete, Noelia1 (AUTHOR), González-Flores, Encarnación2,3 (AUTHOR), Martínez-Martínez, Fernando4 (AUTHOR), Pérez-Ramírez, Cristina5 (AUTHOR), Jiménez-Morales, Alberto1 (AUTHOR)
Publikováno v:
Pharmaceutics. Nov2023, Vol. 15 Issue 11, p2548. 14p.
Autor:
Cura, Yasmin1 (AUTHOR), Pérez-Ramírez, Cristina2 (AUTHOR) cperezramirez87@ugr.es, Sánchez-Martín, Almudena1 (AUTHOR), Membrive-Jimenez, Cristina1 (AUTHOR), Valverde-Merino, María Isabel3 (AUTHOR), González-Flores, Encarnación4,5 (AUTHOR), Morales, Alberto Jiménez1 (AUTHOR)
Publikováno v:
Cancers. Mar2023, Vol. 15 Issue 6, p1821. 25p.
Publikováno v:
Frontline Gastroenterology; 2024 Supplement, Vol. 15, pA1-A63, 136p
Autor:
Soldatov, Vladislav O.1,2,3,4 (AUTHOR) pharmsoldatov@gmail.com, Kubekina, Marina V.1 (AUTHOR), Skorkina, Marina Yu.3,5 (AUTHOR), Belykh, Andrei E.6 (AUTHOR), Egorova, Tatiana V.7 (AUTHOR), Korokin, Mikhail V.2 (AUTHOR), Pokrovskiy, Mikhail V.2 (AUTHOR), Deykin, Alexey V.2,3 (AUTHOR), Angelova, Plamena R.8 (AUTHOR)
Publikováno v:
Journal of Translational Medicine. 12/3/2022, Vol. 20 Issue 1, p1-13. 13p.
Publikováno v:
JPGN Reports; May2024 Supplement 1, Vol. 5, pS1-S1437, 1437p
Autor:
Ammar, Marwa, Safi, Wajdi, Tlili, Abdelaziz, Alila-Fersi, Olfa, Frikha, Fakher, Chouchen, Jihen, Mnif, Fatma, Kharrat, Marwa, Maalej, Marwa, Felhi, Rahma, Abid, Mohamed, Mnif-Feki, Mouna, Kacem, Faten Hadj, Fakhfakh, Faiza, Mkaouar-Rebai, Emna
Publikováno v:
International Journal of Developmental Neuroscience; Nov2022, Vol. 82 Issue 7, p626-636, 13p
Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility.
Autor:
Bianco, Francesca, Lattanzio, Giulia, Lorenzini, Luca, Diquigiovanni, Chiara, Mazzoni, Maurizio, Clavenzani, Paolo, Calzà, Laura, Giardino, Luciana, Sternini, Catia, Bonora, Elena, De Giorgio, Roberto
Publikováno v:
European Journal of Histochemistry; 2021 Supplement, p57-63, 7p
Publikováno v:
Journal of Clinical Neuromuscular Disease; Dec2020, Vol. 22 Issue 2, p97-102, 6p